Paroxysmal slow waves mark ictal networks
Abstract Objective Epilepsy diagnosis and treatment monitoring are hindered by the episodic, heterogeneous expression of seizures and by normal‐appearing scalp electroencephalography (EEG) in many patients. We previously described paroxysmal slow‐wave events (PSWEs), brief epochs of broadband slowing detectable on EEG in people with epilepsy.
Florent J. M. Boyer‐Aymé +13 more
wiley +1 more source
Clinical and genetic diagnostic challenges in presumed hereditary ataxia. [PDF]
Faust H +9 more
europepmc +1 more source
Gamma suppression correlates with thalamic stimulation therapeutic response in intractable epilepsy
Abstract Objective In patients with drug‐resistant epilepsy who undergo anterior nucleus of the thalamus (ANT) deep brain stimulation (DBS), efficacy is assessed months after therapy initiation and clinicians have no guidance when choosing stimulation parameters due to the lack of real‐time biomarkers.
Zachary T. Sanger +10 more
wiley +1 more source
FTLD-TDP-43 With Motor Neuron Disease Pathology in an Autopsied Patient With Spastic Paraplegia-30B Harbouring a Homozygous KIF1A Variant. [PDF]
Saito R +10 more
europepmc +1 more source
Insights into ANKRD11‐related epilepsy from 163 people
Abstract Objective Ankyrin repeat domain 11 gene (ANKRD11) is the key disease gene for autosomal dominant KBG syndrome, and a subset of affected individuals develop epilepsy. However, comprehensive characterization of epilepsy‐related phenotypes and genotype–phenotype correlations in ANKRD11 variant carriers remains limited.
Song Su +6 more
wiley +1 more source
Oligodendrocyte dysfunction contributes to motor deficits and Purkinje cell axonopathy in spinocerebellar ataxia type 1. [PDF]
Lee C +9 more
europepmc +1 more source
Anterior cingulate cortex neuron subtypes differentially regulate seizures
Abstract Objective This study aimed to investigate the regulatory roles of distinct neuronal subtypes within the anterior cingulate cortex (ACC) in acute seizures and to identify cell type‐specific mechanisms underlying seizure modulation in this region. Methods Acute seizure models were established in mice via pentylenetetrazol injection.
Ziqian Yan +12 more
wiley +1 more source
Disseminated paracoccidioidomycosis in a patient with human immunodeficiency virus infection with the spectroscopic detection of trehalose. [PDF]
Rigonato B +4 more
europepmc +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source

